UniProtKB/Swiss-Prot P00505: Variant p.Val346Gly

Aspartate aminotransferase, mitochondrial
Gene: GOT2
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Variant information Variant position:

346 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Valine (V) to Glycine (G) at position 346 (V346G, p.Val346Gly). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from medium size and hydrophobic (V) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Other resources:

Links to websites of interest for the variant.

Variant rs30842 [ dbSNP | Ensembl ]

Sequence information Variant position:

346 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

430 The length of the canonical sequence.
Location on the sequence:

IAAAILNTPDLRKQWLQEVK V MADRIIGMRTQLVSNLKKEG The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         IAAAILNTPDLRKQWLQEVKVMADRIIGMRTQLVSNLKKE-G

Mouse                         IAATILTSPDLRKQWLQEVKGMADRIISMRTQLVSNLKKE-

Rat                           IAATILTSPDLRKQWLQEVKGMADRIISMRTQLVSNLKKE-

Pig                           IASTILTSPDLRQQWLQEVKGMADRIISMRTQLVSNLKKE-

Bovine                        IASTILTSPDLRKQWLHEVKGMADRIISMRTQLVSNLKKE-

Rabbit                        IASTILTSPDLRKQWLQEVKGMADRIIGMRTQLVSNLKKE-

Horse                         IASTILTSPDLRKQWLQEVKGMADRIISMRTQLVSNLKKE-

Chicken                       IASLILNTPELRKEWLVEVKGMADRIISMRTQLVSNLKKE-

Xenopus tropicalis            IAAAILTQPDLRKEWLQEVKGMANRIISMREQLVSNLKKE-

Zebrafish                     IAATILNTPELYKEWLQEVKGMADRIIRMREMLVSNLKKE-

Slime mold                    LVQAILKDKELTNEWRSEVKGMADRIINMREQLVKYLKKH-

Baker's yeast                 VVNVVLSDFKLKQQWFKDVDFMVQRLHHVRQEMFDRL----

Fission yeast                 IANHILSNPALREQWAGEVVGMSERLKSMRKALRNILEKDL

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
Chain	30 – 430	Aspartate aminotransferase, mitochondrial
Modified residue	333 – 333	Phosphothreonine
Modified residue	338 – 338	N6-acetyllysine; alternate
Modified residue	338 – 338	N6-succinyllysine; alternate
Modified residue	345 – 345	N6-acetyllysine
Modified residue	363 – 363	N6-acetyllysine; alternate
Modified residue	363 – 363	N6-succinyllysine; alternate
Modified residue	364 – 364	N6-acetyllysine
Helix	334 – 364

Literature citations
Nucleotide sequence and tissue distribution of the human mitochondrial aspartate aminotransferase mRNA.
Pol S.; Bousquet-Lemercier B.; Pave-Preux M.; Pawlak A.; Nalpas B.; Berthelot P.; Hanoune J.; Barouki R.;
Biochem. Biophys. Res. Commun. 157:1309-1315(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT GLY-346; Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T.; Suzuki Y.; Nishikawa T.; Otsuki T.; Sugiyama T.; Irie R.; Wakamatsu A.; Hayashi K.; Sato H.; Nagai K.; Kimura K.; Makita H.; Sekine M.; Obayashi M.; Nishi T.; Shibahara T.; Tanaka T.; Ishii S.; Yamamoto J.; Saito K.; Kawai Y.; Isono Y.; Nakamura Y.; Nagahari K.; Murakami K.; Yasuda T.; Iwayanagi T.; Wagatsuma M.; Shiratori A.; Sudo H.; Hosoiri T.; Kaku Y.; Kodaira H.; Kondo H.; Sugawara M.; Takahashi M.; Kanda K.; Yokoi T.; Furuya T.; Kikkawa E.; Omura Y.; Abe K.; Kamihara K.; Katsuta N.; Sato K.; Tanikawa M.; Yamazaki M.; Ninomiya K.; Ishibashi T.; Yamashita H.; Murakawa K.; Fujimori K.; Tanai H.; Kimata M.; Watanabe M.; Hiraoka S.; Chiba Y.; Ishida S.; Ono Y.; Takiguchi S.; Watanabe S.; Yosida M.; Hotuta T.; Kusano J.; Kanehori K.; Takahashi-Fujii A.; Hara H.; Tanase T.-O.; Nomura Y.; Togiya S.; Komai F.; Hara R.; Takeuchi K.; Arita M.; Imose N.; Musashino K.; Yuuki H.; Oshima A.; Sasaki N.; Aotsuka S.; Yoshikawa Y.; Matsunawa H.; Ichihara T.; Shiohata N.; Sano S.; Moriya S.; Momiyama H.; Satoh N.; Takami S.; Terashima Y.; Suzuki O.; Nakagawa S.; Senoh A.; Mizoguchi H.; Goto Y.; Shimizu F.; Wakebe H.; Hishigaki H.; Watanabe T.; Sugiyama A.; Takemoto M.; Kawakami B.; Yamazaki M.; Watanabe K.; Kumagai A.; Itakura S.; Fukuzumi Y.; Fujimori Y.; Komiyama M.; Tashiro H.; Tanigami A.; Fujiwara T.; Ono T.; Yamada K.; Fujii Y.; Ozaki K.; Hirao M.; Ohmori Y.; Kawabata A.; Hikiji T.; Kobatake N.; Inagaki H.; Ikema Y.; Okamoto S.; Okitani R.; Kawakami T.; Noguchi S.; Itoh T.; Shigeta K.; Senba T.; Matsumura K.; Nakajima Y.; Mizuno T.; Morinaga M.; Sasaki M.; Togashi T.; Oyama M.; Hata H.; Watanabe M.; Komatsu T.; Mizushima-Sugano J.; Satoh T.; Shirai Y.; Takahashi Y.; Nakagawa K.; Okumura K.; Nagase T.; Nomura N.; Kikuchi H.; Masuho Y.; Yamashita R.; Nakai K.; Yada T.; Nakamura Y.; Ohara O.; Isogai T.; Sugano S.;
Nat. Genet. 36:40-45(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2); VARIANT GLY-346; The primary structure of mitochondrial aspartate aminotransferase from human heart.
Martini F.; Angelaccio S.; Barra D.; Pascarella S.; Maras B.; Doonan S.; Bossa F.;
Biochim. Biophys. Acta 832:46-51(1985)
Cited for: PROTEIN SEQUENCE OF 30-430; VARIANT GLY-346;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.